rs10947261
This is a intron variant variant in the BTNL2 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
Crohn's disease
▶Research that mentions this SNP (2)
▶Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis BAssociationN=6,033Jiang DK et al.(2015)· Hepatology
A genome-wide association study of 83 plasma proteins relevant to cardiovascular disease in 3,394 European subjects identified 79 genome-wide significant loci (p<5e-8), with 55 replicating in independent cohorts (n=2,639). Using eQTL analysis and network methods, the authors proposed plausible causal mechanisms for 25 trans-acting loci including post-translational regulation of KITLG by MMP9 and several receptor-ligand pairs. Multiple loci showed evidence of causal association with coronary artery disease risk.
▶Genome‐wide association analysis of juvenile idiopathic arthritis identifies a new susceptibility locus at chromosomal region 3q13AssociationN=12,240Susan D. Thompson et al.(2012)· Arthritis & Rheumatism
A GWAS of juvenile idiopathic arthritis in 814 cases and 3058 controls identified novel susceptibility loci at 3q13 and 10q21. The most significant associations were at rs4688011 (C3orf1/CD80, OR=1.37, P=1.88×10⁻⁶), rs6479891 (JMJD1C, OR=1.59, P=6.1×10⁻⁸), rs12411988 (JMJD1C, OR=1.57, P=1.16×10⁻⁷), and rs10995450 (NRBF2-EGR2, OR=1.31, P=6.74×10⁻⁵). Replication and meta-analysis in 1744 cases and 7010 controls confirmed associations for the four loci. eQTL analysis showed cis associations with C3orf1 and JMJD1C expression.
About BTNL2
This gene encodes a major histocompatibility complex, class II associated, type I transmembrane protein which belongs to the butyrophilin-like B7 family of immunoregulators. It is thought to be involved in immune surveillance, serving as a negative T-cell regulator by decreasing T-cell proliferation and cytokine release. The encoded protein contains an N-terminal signal peptide, two pairs of immunoglobulin-like domains, separated by a heptad peptide sequence, and a C-terminal transmembrane domain. Naturally occurring mutations in this gene are associated with sarcoidosis, rheumatoid arthritis, ulcerative colitis, inflammatory bowel disease, myositis, type 1 diabetes, systemic lupus erythematosus, acute coronary syndrome, and prostate cancer. [provided by RefSeq, May 2017]
View all BTNL2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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